Genes, Dominant

Bassa statura: tutta colpa del papà

Tornese G.

2025/9 — pag. 598-600 — DOI

A child with slow growth and normal hormonal tests shows distinctive physical features. Clinical exome sequencing reveals a mutation in the IHH gene, inherited from the father, who had initially been overlooked. The child responds very well to growth...

Ereditieri sfortunati: il rene policistico

G.C. Calligari


2020/8 — pag. 212-213 — DOI

Sindrome di Waardenburg - Descrizione di un caso clinico

V. Carrato, A. Spinelli, I. Bruno

2017/5

Waardenburg syndrome - type 1 (WS1) is an autosomal dominant disease clinically and genetically heterogeneous. It is characterized by non-progressive sensorineural hearing loss of variable degree and anomalous pigmentation of the eyes and the skin ca...

La sindrome di Alagille

S. Nastasio, M. Sciveres, S. Ghione, G. Marsalli, F. Cirillo, S. Riva, G. Maggiore

2013/10 — pag. 635-642

Alagille syndrome (ALGS, OMIM 118450) is a multisystem disorder due to defects in components of the Notch signalling pathway. Its main clinical and pathological features are chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral ...